Inborn errors of metabolism
Gene: HSPA9Comment on phenotypes: EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia;Epiphyseal, Vertebral, Ear, Nose, plus associated findings.
Monoallelic variants reported in Anemia, sideroblastic, 4 182170.Created: 30 Sep 2019, 1:35 p.m. | Last Modified: 30 Sep 2019, 1:35 p.m.
Panel Version: 1.330
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated cases.Created: 30 Sep 2019, 1:33 p.m. | Last Modified: 30 Sep 2019, 1:33 p.m.
Panel Version: 1.329
Comment on list classification: Discussed in the Analysis & Interpretation meeting and decided to make this red for now.Created: 25 Apr 2016, 12:18 p.m.
Comment on list classification: PMID: 26598328 describes the identification of biallelic variants in HSPA9 in three patients (two of which are siblings), with EVEN-PLUS syndrome (a proposed syndrome name), and discussed the evidence for likely effect on HSPA9 function due to its role as a mitochondrial chaperone.Created: 15 Feb 2016, 11:46 a.m.
Comment on mode of inheritance: One patient was compound heterozygous, the two siblings were homozygous for a seperate mutation. Unaffected parents were heterozygous.Created: 15 Feb 2016, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPA9 were changed from EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings to Even-plus syndrome 616854
Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Sarah Leigh: Associated with phenotype in O
gene: HSPA9 was added gene: HSPA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to PMID: 26598328 Phenotypes for gene: HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings